Variant report

Variant	nsv582236
Chromosome Location	chr2:76914970-76929044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 742 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17013020	chr2:76914970-76914971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72915624	chr2:76914994-76914995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565984659	chr2:76915012-76915013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536416382	chr2:76915016-76915017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183357002	chr2:76915024-76915025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576158724	chr2:76915040-76915041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537140546	chr2:76915071-76915072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs985812	chr2:76915107-76915108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576748654	chr2:76915113-76915114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185822114	chr2:76915123-76915124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537214226	chr2:76915134-76915135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35310640	chr2:76915175-76915176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541049962	chr2:76915180-76915181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560596988	chr2:76915181-76915182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77006744	chr2:76915191-76915192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118030578	chr2:76915203-76915204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574098361	chr2:76915207-76915208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76468462	chr2:76915267-76915268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531834576	chr2:76915341-76915342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549843839	chr2:76915346-76915347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565403227	chr2:76915359-76915360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs954787	chr2:76915366-76915367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547783361	chr2:76915367-76915368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565794010	chr2:76915375-76915376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11689433	chr2:76915391-76915392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116718250	chr2:76915425-76915426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545563256	chr2:76915429-76915430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150171850	chr2:76915435-76915436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190585034	chr2:76915487-76915488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183184888	chr2:76915489-76915490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576894476	chr2:76915501-76915502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138628389	chr2:76915515-76915516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187890219	chr2:76915570-76915571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs956733	chr2:76915600-76915601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572359272	chr2:76915613-76915614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192544219	chr2:76915614-76915615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554887132	chr2:76915633-76915634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576205546	chr2:76915649-76915650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544013793	chr2:76915697-76915698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565488500	chr2:76915700-76915701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182411432	chr2:76915707-76915708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187944846	chr2:76915749-76915750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539008404	chr2:76915754-76915755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192422259	chr2:76915771-76915772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs954786	chr2:76915788-76915789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79528007	chr2:76915791-76915792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548488377	chr2:76915800-76915801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553548704	chr2:76915805-76915806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569994814	chr2:76915813-76915814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530696550	chr2:76915820-76915821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76906000-76926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76914200-76918200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:76914600-76915800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:76915800-76916000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:76916000-76927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:76918200-76918600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:76918400-76919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:76918600-76919000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:76918600-76919400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76918600-76927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:76918800-76919600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:76918800-76920200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:76922000-76922600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:76925600-76925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:76926600-76926800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:76927800-76928400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:76928000-76928400	Enhancers	Fetal Heart	heart
18	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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